Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vibrant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, diagnosis, genetics, management and auditory rehabilitation.
DNA-Directed RNA Polymerases ; genetics ; Facial Bones ; abnormalities ; Humans ; Mandibulofacial Dysostosis ; diagnosis ; genetics ; rehabilitation ; Mutation ; Nuclear Proteins ; genetics ; Phosphoproteins ; genetics

ObjectiveTo evaluate the influence of electrotome on permanent and temporary cardiac pacemaker in laparoscopic cholecystectomy ( LC),and the application of cardiac pacemaker to the cases of cholecystolithiasis combined with bradyarrhythmia.MethodsClinical data of 215 patients with permanent or temporary cardiac pacemaker who underwent were studied for the preoperative and postoperative variation of pacemaker function,and for the influence of electricity coagulation during the operation on cardiac pacemaker function.ResultsLC was successfully completed in all 215 patients.The function of cardiac pacemaker was not obviously interfered during the operation,and the parameters of cardiac pacemaker did not remarkably change after the operation.ConclusionCardiac pacemaker is slightly interfered when electrotome and electrocoagulation were used in LC; LC is feasible and safe for patients with bradyarrhythmia by placement of cardiac pacemaker.

Objective To evaluate the radiation dose and image quality of the third-generation dual-source CT using automated tube voltage adaptation (CARE kV) in temporal bone scanning in pediatric patients with hearing impairment. Methods Totally 27 children with hearing impairment less than 18 years old were randomly divided into two groups:Group A (n=14),examined with CARE kV (reference with 100 kV and 214 mA)and sinogram-affirmed iterative reconstruction;and Group B (n=13),examined with CARE kV (reference with 100 kV and 171 mA)and advanced modeled iterative reconstruction. The scan range was from eyebrow to the end of the mastoid process. CT values and image noise were measured.The signal to noise ratio (SNR)was calculated. Subjective image quality was assessed by two radiologists and later in a consensus reading. Results There was no significant difference in CT value,image noise,and SNR between these two groups (all P>0.05). Also,the subjective scores of the 10 anatomical structures showed no significant difference (all P>0.05). The CT dose index volume and dose-length product were (11.62+1.92)mGy and (106.92+37.48)mGy·cm,respectively,in group B and (21.28+2.19)mGy (t=12.15,P<0.001)and (229.65+56.26)mGy·cm (t=6.62,P<0.001)in group A,decreased by 45% and 53%. Conclusion Compared with the second-generation dual-source CT,the third-generation dual-source CT for the scanning of temporal bone with CARE kV can ensure image quality and reduce radiation dose.
Child ; Hearing Loss ; diagnosis ; Humans ; Radiation Dosage ; Radiographic Image Interpretation, Computer-Assisted ; Signal-To-Noise Ratio ; Temporal Bone ; diagnostic imaging ; Tomography, X-Ray Computed ; methods

Objective:To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies.Methods:A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed.Results:A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common.Conclusions:Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.

  Objective  Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms. In this study, we perform analyzed the genetic makeup of a family with this rare Mohr-Tranebjaerg syndrome.  Methods  We collected the clinical data of the family, did the whole exome sequencing on the proband Ⅲ6 with a rare mutation, and verified the mutation in another affected family member Ⅲ5 and unaffected members Ⅰ1, Ⅰ2, Ⅱ1, Ⅱ5, Ⅱ7, Ⅱ8, Ⅲ7.  Results  The patients in the family all showed early-onset deafness. More than a couple of affected male members have dystonia with/without mental disorders. Genetic testing results showed the proband Ⅲ6 had a c.133-2delA in TIMM8A (NM_ 004085.3, DDP1), highly likely pathogenic(LP). This variation was detected in affected Ⅲ5 as well as the unaffected females Ⅰ1, Ⅱ5, Ⅱ7.  Conclusions  MTS caused by the rare TIMM8A mutation, the molecular etiology of the family with this rare disease, is highly consistent with the clinical manifestations and segregation. Other than the deafness, other symptoms varied among the affected family members. Genetic diagnosis for such X-linked diseases can also identify female heterozygotes. Genetic and reproduction counseling can help families in the family planning.

Objective To investigate the current situation and health effects of indoor microbial pollution in Xi'an, to analyze the purification effect of air purifiers on indoor microbial pollution, and to provide reference for improving the indoor environment. Methods Through stratified random sampling, 20 families from rural areas and 20 families from upwind and downwind urban areas respectively were selected from Xi'an. Data was collected by questionnaire surveys and on-site environmental sampling. Non-parametric analysis and correlation analysis were used for statistical analysis. Results Overall, the standard-exceeding rate of total count of bacteria was 5.00%. The medians of the total count of bacteria and fungi were 312.50 cfu/m3 and 260.00 cfu/m³, respectively. In terms of health effects, the correlation between rhinitis and cold with total bacterial count was statistically significant (P<0.05), with the correlation coefficients of 0.182 and 0.223, respectively. Purification effect of air purifiers on microbial pollution was statistically significant (P<0.05). After opening for 2 hours, the total numbers of bacteria and fungi decreased significantly. Conclusion The occurrence risk of colds and rhinitis is increased by indoor microbial pollution. Air purifiers have a certain effect on decreasing the total number of bacteria and fungi. It is recommended to use air purifiers with high CADR of particulate matter, double-layer filter and sterilization and dehumidification function, and replace the filters regularly to reduce indoor microbiological contamination.